This article is a bit lengthy, but is very interesting. It's also nearly two years old and the prices mentioned have obviously come down considerably, at least in our project's case (which may be in part to BYU funding). Patrick http://www.ancestry.com/library/view/ancmag/1480.asp Ancestry Magazine 1/1/2000 - Archive January/February 2000 vol. 18, no.1 ---------------------------------------------------------------------------- ---- Genetic Codes Unraveled: New Clues to Human History – Candace L. Doriott EDITOR'S NOTE: See also "Human Genome Project Goals" and "Another Reason to Dig Up Your Ancestor." ---------------------------------------------------------------------------- ---- Tracing a family tree back beyond a few centuries is a challenge genealogists. Many depend on secondary sources to expand their pedigree into the past, bemoaning the difficulty of finding primary records to prove their lineage. Some have downloaded files from online databases or exchanged data with an alleged distant relative in order to extend their genealogy by another generation or two, despite not knowing what sources were used. The desire to connect to early ancestors prompts less sophisticated individuals to believe mythical genealogies linking them with the Emperor Constantine or even the Biblical Noah. Knowledgeable genealogists empathize with the desire, but cringe at the naiveté of anyone thinking they could prove a link to ancient people. So, needless to say, it was astonishing in 1997 to read news reports about a British schoolteacher’s familial connection to the so-called Cheddar Man. British filmmakers were working on a documentary in 1997 about the skeleton of a prehistoric man found in a cave in Cheddar Gorge in southwest Britain. Researchers at Oxford University were asked to conduct genetic tests to compare DNA from this Stone Age human with that of modern residents of the area. Cheek swabs for DNA samples were taken from one classroom of students and their teacher at the school in a community near where the skeleton was found. Incredibly, when testing was complete, they had found a familial match between the 9,000-year-old skeleton and the history teacher, Adrian Targett.1 Many papers misreported the connection, describing the prehistoric man as a direct ancestor to the modern day teacher. However, the tests compared mitochondrial DNA, which is passed to children from mothers, not fathers. Thus, what the test actually indicated was that the prehistoric man and the modern schoolteacher descended from the same female ancestor. In kinship terms, they are some degree of cousin approximately 315 times removed! In the News Genealogy is not usually the stuff of newspaper headlines. In recent years, however, reports of genealogical discoveries and controversies ranging from Cheddar Man to Kenewick Man to the Romanovs to the Jefferson-Hemings tests have appeared as front-page stories in major news publications. (See Mark Howells’ article, “Double Helix Genealogy,” p. 52) What made these stories newsworthy was not traditional research and documentation of a pedigree based on accepted genealogical proofs. These stories were news because the evidence was in the DNA. Until recently, most genealogists wouldn’t think of science as relevant to research on family trees. But anyone holding that view should have changed it dramatically after the news reports on the Jefferson-Hemings case. Although there are criticisms about the process used, the DNA testing of the Y chromosome appears to corroborate a long-standing oral history that Thomas Jefferson fathered at least one child by his slave, Sally Hemings. Reports of DNA tests done for the express purpose of confirming or ruling out a genealogical relationship are exciting. Prior to Jefferson-Hemings, the primary use of DNA testing was for contested paternity cases, or for research and diagnosis of hereditary disorders. A review of some history and definitions may be beneficial before we discuss the potential promises and pitfalls genetic research holds for genealogy. The Hunt for Genes Attempts to manipulate genes has a long history, including some of the most tragic events of the twentieth century. The eugenics movement in the United States began in the early 1900s and resulted in forced sterilization of over 60,000 people to prevent them from passing on “undesirable” family traits. Families with criminal histories or those judged to be “morons” were targeted, but sometimes their only defect was poverty. The Nazi attempt to breed the “perfect race” and eliminate those they considered impure shocked Americans, and had a chilling effect on the popularity of the eugenics movement.2 Meanwhile, scientists engaged in research on plants and fruit flies made progress in furthering their knowledge of genes and DNA. Research has proven that the blueprint for life is contained in the chromosomes of each plant or animal. For humans, there are twenty-three chromosome pairs, each composed of a double strand of coiled DNA. Genes are situated at various locations along the long strands of DNA and between the genes are stretches of DNA material that for some time did not appear to have any function. However, as research on human DNA progressed, differences in the makeup of these seemingly empty stretches proved valuable in the search to locate genes. Although nobody knows how many human genes there are, it is estimated we have close to 100,000. Concern about hereditary disorders prompted interest in studying human DNA. But earlier efforts to discover the genes responsible for devastating disorders such as Huntington’s disease or hemochromatosis had met with failure. Research using Mormon genealogies coupled with biochemical discoveries led to the identification of genetic markers that made locating and mapping human genes significantly easier. These markers are short sections of DNA where the arrangement of molecules cause the sections to take on a color in reaction to a specific chemical. Using a variety of chemicals brings out a variety of different colored markers. Mutations or changes in DNA may result in the deletion of some marker segments and the addition of new ones, and the mutations are passed on to the person’s descendants. Hereditary diseases are due to changes in a segment of DNA that contains a gene. Researchers used DNA markers to help them detect differences among those who inherited a disorder with those who did not. The gene for Huntington’s disease was discovered in 1983 and in the years that followed, scientists identified genes implicated in other hereditary disorders. Of course, pedigree and descendancy charts were crucial elements in these endeavors.3 Locating the gene involved in a hereditary disorder is a first step to understanding how the gene affects health and functioning. But determining the specific gene defect requires additional efforts. Because of this, scientists began discussing a proposal to map the entire human genome. This would simplify research on specific disorders, and prevent scientists from wasting valuable time mapping sections of the genome that were already mapped. The Human Genome Organization was founded in 1989 by an international group of genetic researchers. In 1990 the National Institute of Health and the Department of Energy agreed to coordinate efforts by establishing the Human Genome Project. The Project was expected to take fifteen years, but advancements in procedures have reduced the estimate to thirteen years.4 DNA & Genetic Research Up to now this discussion has focused on nuclear DNA. This genetic material exists in the nucleus or center of each cell. A second type of DNA exists inside each cell but lies outside the nucleus. These are short strands of DNA called mitochondria. A child receives half of his or her nuclear DNA from the mother and the other half from the father, but the mitochondrial DNA comes only from the mother. This inheritance pattern means that, except for random mutations, mitochondria passed from mother to children are exact replicas through the generations. Mitochondria are considerably shorter and less complicated than nuclear DNA, and thus are easier to analyze and use as a tool for ancestral research. Mitochondrial DNA (abbreviated as mtDNA) became part of the vernacular with the announcement that researchers had used it to determine the theoretical mother of us all. By comparing mtDNA of sample populations from each continent, and estimating the rate of mutations, they calculated that this prehistoric female, dubbed Eve, had lived in Africa about 200,000 years ago. Although the announcement was met by skepticism and created significant controversy, it opened up a world of possibilities for paleoanthropology and research on migration patterns.5 As work progressed on mapping the genome, some researchers focused on the Y chromosome. Just as mtDNA can be used to trace a direct female line, the direct male line can be traced using the Y chromosome, passed from father to son. This, of course, is the basis of paternity testing. Although researchers discovered that Y chromosomes may change slightly from generation to generation, there is a section of the Y chromosome that remains intact, without changes except for mutations. Researchers now had a tool to trace male lineages and migration patterns. Confirming Oral Histories As a child sitting around listening to grown-ups talk during family get-togethers, you probably heard stories of where grandparents or great grandparents originally came from. In some families, stories of migration may be part of a larger oral history that encompasses the entire ethnic community. For years, anthropologists studying the peoples of Hawaii and Polynesia heard tales of sea travel between these far away islands and stories of ancestors from distant isles. Anthropologists discounted the tales as being too fanciful because they couldn’t imagine ancient peoples with the skills to travel great distances across the Pacific Ocean. DNA testing has since proved this oral history was based on reality. Hawaiians share a close common genetic lineage with the peoples of Polynesia.6 On a familial level, DNA research is providing support for a Jewish tradition which holds that priests are descendants of Aaron, the brother of Moses. Therefore, priesthood in the Jewish community is based on heredity, passing the line of authority from father to son. In both Ashkenazi and Sephardic branches of Judaism, the family name Cohen or Kohen means priest. Researchers found markers on the Y chromosome of Cohens from Israel, Britain, and North America that are not found on the Y chromosome of other Jews. Similar markers among Cohens indicate a shared male ancestor.7 The Lemba tribe of South Africa provides another example of oral history doubted by outsiders but proved by DNA research. Many traditions of the Lemba are similar to those of Jewish communities. Their oral history described ancestors from the north who were priests, metalworkers, and traders. They arrived in Africa after crossing a vast expanse of water. DNA testing of Y chromosomes has confirmed their Semitic origins, with the Bantu group of Lemba possessing the same markers as the Cohens.8 In British Columbia, native peoples of the Champagne-Aishihik First Nations have oral histories that tell of trade routes crossing glaciers to reach coastal areas on the Pacific. In August of 1999, the remains of an ancient hunter were found frozen in a glacier. Radiocarbon dating of the garments he wore reveals they were created in the early 1400s. Scientists and Native Americans in Canada are working together on a plan of research for this frozen 550-year-old man. Within the next year, members of the Champagne-Aishihik First Nations hope to learn whether they share a family connection with this unknown hunter.9 Genetic Roots Interest in genealogy got a boost in the United States when Alex Haley’s Roots was broadcast on television. Despite questions about veracity and plagiarism, Haley’s story raised the profile of genealogy. Haley dreamed of tracing his roots back to Africa, but could only speculate on where his line originated. Genealogist’s working on Afro-American lines still face special challenges in researching their family trees. While European and Asian Americans usually know the country(s) their forebears emigrated from, the descendants of slaves forcibly brought from Africa rarely have information on the country of origin. The United States is often called a melting pot, comprised of people who immigrated from various nations. Over the years, the genes of these diverse peoples have been mixed. Sometimes family traditions or genealogical research has identified the variety of ancestral origins. In other families, the history may be shrouded due to family separations, lack of interest, or family secrets long forgotten. Research in Ethiopia provides an example of using a variety of genetic markers to determine the multiplicity of ethnic ancestors. Researchers used both mitochondrial DNA and Y chromosome patterns to identify ancestral origins. In earlier times, Ethiopia was at the center of several trade routes, with diverse peoples passing through or settling among the native population. Many of these visitors left their mark, as evidenced in the genes of modern Ethiopians.10 A Shared Heritage Populations that have remained relatively isolated, with few immigrants to broaden the genetic pool are termed homogeneous. People in homogeneous societies have very similar DNA, so random mutations that differentiate family groups are easier to find and trace. Populations that are isolated genetically tend to experience a unique set of hereditary disorders that attracts researchers. Genetics used in the study of linguistic groups and patterns of migration have identified homogeneous populations in Europe, including Fins and Basque. The earliest genetic studies were conducted by the U.S. Department of Energy due to the devastation wrought by atomic bombs on Nagasaki and Hiroshima in Japan. U.S. and Japanese researchers searched for possible mutations caused by exposure to radiation. In the process, it was discovered that people in each city had inherited unusual differences in DNA that distinguished residents of one city from the other. Due to Japan’s isolation, neither city had many immigrants to contribute to the gene pool. The variance in DNA was traced back to different founding populations of warring clans 8,000 years ago.11 One of the most interesting genealogical stories to come out of the Human Genome Project is the history of Iceland. Iceland was founded by Vikings in 874 AD. After an early influx of Irish genes from women captured to be wives for the Vikings who settled the western coast of Iceland, the population remained genetically isolated. Heroic tales recorded in those ancient times, called the Icelandic Sagas, include extensive genealogies of the early settlers. Church records of births and deaths were first recorded in 1000 A.D. With this history, many residents can trace their family trees back to these early times.12 As mentioned earlier, DNA similarity among homogeneous populations simplifies research because small differences stand out. To facilitate research on hereditary disorders, a company called DeCode created a database of Icelandic genealogies that begins in 900 A.D. With government authorization and the approval of the majority of Icelanders, DeCode is collecting blood samples from everyone in the population willing to participate in the creation of a DNA database.13 Genealogical Genetics Mapping the human genome to facilitate research on hereditary disorders, and using DNA to determine where and when our species evolved, and thereby study the migration and connections between ancient populations is extremely important work. However, many genealogists will only take an avid interest in genetics if it can help them research their own family tree. The rise of the computer and the Internet has been a mixed blessing for genealogists. Unfortunately, many genealogists contribute to the Internet’s biggest genealogical problem by disseminating erroneous genealogical data that are impossible to track down and correct. Now, the rise of genetics may finally give us a tool to validate the accuracy of careful research and expose bogus ancestral lines. Genetic testing will be an important aid for researchers with common names in helping determine which family to pursue. Testing may corroborate genealogical research on disputed lines. It may also assist genealogists who have been frustrated by situations where long-held family secrets obscured the identity or ethnicity of an ancestor. However, genealogists who have been intent on collecting hundreds of undocumented relatives to expand their family tree will likely face the collapse of their collection, as branches have to be excised from their tree. Advancements made as a result of the Human Genome Project will provide a variety of ways to employ DNA checks of family lines. Mitochondrial DNA tests for direct maternal lines, while the Y chromosome can determine the paternal line. Gene mutation and defects is one way to prove descendancy for other lines. Plus there are the genetic markers that occur in sections of non-functioning DNA between the genes. Comparing the pattern of these markers in selected segments of DNA provides another way to test for relatedness and ancestry. In addition to direct DNA testing, researchers will discover additional indirect means, such as blood chemistry, that correlate with genetic patterns but are cheaper and more available. Not There Yet Despite the Jefferson-Hemings test, use of DNA to investigate family lines is still in the future for most genealogists. The first time I wrote about genetics in Genealogical Computing, several readers wondered how they could get DNA testing done. Unfortunately, genetic testing is still very expensive (almost $500 for paternity testing and almost $1,000 for DNA sibling tests) and not readily available for purely genealogical purposes. Researchers may be familiar with the Umbilical Lines Project directed by Thomas Roderick at the Center for Human Genetics in Bar Harbour, Maine. Aside from a Web page, Roderick gave presentations on the Project at genealogical conferences. The goal of the Project was to collect genealogies and blood samples to find people whose mtDNA might identify a shared ancestor in the early 1800s or before. Unfortunately, Roderick retired from the Center for Human Genetics and, without funding, the Project has been put on hold.14 Another project which uses the Y chromosome to research the Savin male lineage is being conducted in Great Britain. Alan Savin, a genealogist who maintains the database for the one-name Savin study, proposed the project to scientists at University College in 1997. Funding is through the College and the Institute of Heraldic and Genealogical Studies. To date, the project is proceeding and preliminary results have been shared with participants in the study.15 Be Prepared Although genetic testing is not assessible to most genealogists, it doesn’t mean you should not be prepared, according to Envirolutions, Inc. This company recognizes the market potential of genealogists for DNA tests. Their Web site includes this pitch for their DNA Archive Kit: “DNA information will become increasingly valuable to genealogists who want firm proof of ancestral relationships. Preserve your DNA with DNA-Arc as an heirloom for future generations right along with your photos, scrap books, hair clippings, and other family momentos.” Now we have the means to obtain and conserve DNA samples of living relatives. However, the question not yet answered is how to get samples from the dead. On a less ghoulish note, genealogists should keep informed of scientific advancements that will someday affect us. If you haven’t already done so, it’s time to add new bookmarks to your Web browser, and time to browse a different kind of periodical at the bookstore. General interest science magazines, such as Discover and Scientific American, often include news about genetic research written for the non-professional. American Scientist and Science Spectra are geared toward a more sophisticated readership. If you are up to technical reading, publications such as Nature, the Journal of Human Genetics and Science feature peer reviewed reports on the latest research. Many of these publications post articles on the Web. It’s not just individual genealogists that have to prepare. Organizations that base membership on proof of pedigree should plan for the inevitable challenges of genetic science. DNA testing will uncover more than shoddy research. How will the organization handle genealogically-proven but biologically-incorrect lineages? If document trails do not exist, will DNA evidence be accepted as proof of descendancy? The Jefferson-Hemings test was the first shot across the bow of lineage societies and incautious genealogists. Research on human genetics will ensure that more will follow, as the new science alters the practice of genealogy. Notes 1Shanti Menon, “Son of Cheddar Man,” Discover, January 1998, 33; Sue Leeman, “Science finds man's great, great, great, great...” Associated Press, http://ardmoreite.com/stories/030997/news/news21.html [11/14/99]; Chris Mihill, “Modern man finds ancestor 9,000 years old,” Electronic Mail&Guardian, March 11, 1997, www.mg.co.za/mg/news/97mar1/10mar-family.html [11/14/99]; Daily Review, “DNA links cave man to British teacher,” Los Angeles Times, March 1997. 2Dave Manney, "Sterilization," HOUR Detroit, September 1999, 68-74; Steve Jones, The Language of Genes (New York: Doubleday, Anchor Press, 1994; originally published in the United Kingdom by HarperCollins, 1993), 18-21. 3Jerry E. Bishop & Michael Waldholz, Genome, updated ed. (San Jose: iUniverse.com, toExcel, 1999). 4Bishop & Waldholz, Genome; The Human Genome Organization, modified 03-Nov-99, www.gene.ucl.ac.uk/hugo/ [11/14/99]; Human Genome Project Information, modified November 12, 1999, www.ornl.gov/TechResources/Human_Genome/home.html [11/14/99]. 5Tabitha M. Powledge and Mark Rose, “The Great DNA Hunt,” Archaeology (Sept/Oct 1996). 6Adam Goodheart, “Mapping the Past,” Civilization (Mar/Apr 1996), 43; History, Tahiti Explorer, n.d., www.tahiti-explorer.com/index.html [11/15/99]; Dennis Kawaharada, “The Settlement of Polynesia,” Part 1, The Polynesian Voyaging Society, 29 January 1996, http://leahi.kcc.hawaii.edu/org/pvs/migrationspart1.html [11/15/99]. 7Tim Radford, “Cohens in a (gene) class of their own,” Electronic Mail&Guardian, 14 January 1997, www.mg.co.za/mg/news/97jan1/14jan-gene.html [11/17/1999]; Neil Bradman and Mark Thomas, “Why Y? The Y Chromosome In The Study Of Human Evolution, Migration And Prehistory,” Science Spectra, no. 14 (1998), www.ucl.ac.uk/tcga/ScienceSpectra-pages/SciSpect-14-98.html [11/17/1999]. This is a good overall explanation of X Y chromosome research including info on the Lemba and the Cohen. 8Bradman and Thomas, “Why Y? The Y Chromosome In The Study Of Human Evolution, Migration And Prehistory”; Hillary Mayell, “DNA Evidence Supports African Tribe's Jewish Connection,” National Geographic, 24 June 1999, www.ngnews.com/news/1999/06/062599/lembamen_3775.asp [11/20/1999]. 9David D. Kuehn, “Frozen in Time,” Discovering Archaeology, November/December 1999, 78-81; James Brooke, “Lost Worlds Rediscovered as Canadian Glaciers Melt,” New York Times On The Web, 5 October 1999, www.nytimes.com/library/national/science/100599sci-archeology-canada.htm [11/20/1999]. 10Giuseppe Passarino and others, “Different Genetic Components in the Ethiopian Population, Identified by mtDNA and Y-Chromosome Polymorphisms,” American Journal of Human Genetics, 62 (1998):420-434, electronically published 13 February 1998, www.journals.uchicago.edu/AJHG/journal/issues /v62n2/970077/970077.text.html#crf53 [11/06/99]. 11Jones, The Language of Genes, 39. 12Robert Kunzig, “Blood of the Vikings,” Discover, December 1998; Zina Moukheiber, “Genes for Sale,” Forbes Magazine, 27 July 1998, www.forbes.com/forbes/98/0727/6202203a.htm [11/19/1999]; Transcripts (Show 803), “Nordic Sagas: Iceland Genes,” Scientific American Frontiers, 1997-1998, www.pbs.org/saf/8_resources/83_transcript_803.html [11/12/1999]. 13Moukheiber, “Genes for Sale.” 14Umbilical Line Project, info posted by FEEFHS, 21 March 1996, http://feefhs.org/misc/frg-chg.html [11/06/1999]. 15Alan Savin, The D.N.A. Detective, updated 9 May 1999, www.savin.org/dna/ [11/21/1999]; Alan Savin, “Y Chromosome Project Synopsis,” March 1998, www.savin.org/dna/y-chromosome-project.html [11/21/1999]. Candace L. Doriott, Bits & Bytes columnist for Ancestry’s Genealogical Computing, is a registered nurse. Since 1993, Doriott has explored current issues and the evolving technology that shapes the future of family history research.